exome

BGI-XOME - CLINICAL EXOME SEQUENCING

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BGI’s Whole Clinical Exome Sequencing

BGI’s Whole Clinical Exome Sequencing examines the DNA sequence of over 180,000 exons across 22,000 genes, screening for more than 4000 monogenic diseases.

Why Choose Whole Clinical Exome Sequencing?

Accurately provides a straightforward and cost effective approach for identifying the genetic variants responsible for a wide range of genetic disorders, thereby assisting clinical diagnosis. Many genetic disorders are amenable to effective treatment upon timely diagnosis. Early detection and intervention can lead to more favorable clinical outcomes.

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Targeted Monogenic Disease Testing

BGI Xome – Targeted Monogenic Disease Testing offers a wide range of gene panels covering more than 2000 genes and 1500 monogenic diseases.

Why Choose Targeted Monogenic Disease Testing?

Targeted sequencing allows the researcher to focus on one or more specific regions and to sequence that target with a high level of coverage without generating significant quantities of off-target data.

This increases the chance of finding biologically relevant variants. BGI provides panels organised by 10 different body systems and also a wide range of smaller gene panels selected for specific monogenic diseases. As of 2017, BGI has tested around 10,000 samples for thalassemia, 1,100,000 samples for hearing loss, as well as a large volume of samples for Hereditary Muscular Disease, Cystic Fibrosis, Neurofibromatosis, Hypertrophic Cardiomyopathy, Inherited Metabolic disorders, Retinitis Pigmentosa, Polycystic Kidney Disease and Marfan Syndrome.